Abstract：
Marfan syndrome (MFS) is a hereditary condition caused by mutations in the FBN1 gene. Genetic mutations in the FBN1 locus impact the function of the encoded protein, Fibrillin 1, a structural molecule forming microfibrils found in the connective tissue. MFS patients develop severe cardiovascular complications including thoracic aortic aneurysm and aortic dissection, which predispose them to an enhanced risk of premature death. Here, we generated two induced pluripotent stem cell (iPSC) lines harboring mutations in the FBN1 gene (p.C1942C>A and c.1954 T>C), directly derived from MFS patients. We have shown that both iPSC lines displayed expression of pluripotency markers, normal karyotype and ability of trilineage differentiation, representing a valuable tool for the identification of new therapeutic strategies for intervening in this disease.
摘要：
马凡氏综合征（MFS）是由FBN1基因突变引起的遗传性疾病。FBN1基因位点的基因突变影响编码蛋白的功能,纤溶蛋白1，一种在结缔组织中发现的形成微纤维的结构分子。MFS患者会出现严重的心血管并发症，包括胸主动脉瘤和主动脉夹层，这使得他们过早死亡的风险增加。这里,我们产生了两个在FBN1基因中具有突变的诱导多能干细胞（iPSC）系（p.C1942C>A和c.1954T>C)，直接来源于MFS患者。我们已经表明，两个iPSC系都显示多能性标记的表达，正常核型和三系分化能力，代表了一种有价值的工具，用于确定干预这种疾病的新治疗策略。
